Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
Küçük Resim Yok
Tarih
2004
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.
Açıklama
Anahtar Kelimeler
Clinical correlation, Deletion analysis, Dystrophinopathy, Gene promoter mutation
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
46
Sayı
4
